Incidental Mutation 'R7001:Ankib1'
| ID |
544535 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ankib1
|
| Ensembl Gene |
ENSMUSG00000040351 |
| Gene Name |
ankyrin repeat and IBR domain containing 1 |
| Synonyms |
2310061P20Rik, 4631416I11Rik |
| MMRRC Submission |
045106-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7001 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
3740000-3852925 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 3744781 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 800
(F800S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142687
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043551]
[ENSMUST00000200335]
|
| AlphaFold |
Q6ZPS6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000043551
AA Change: F794S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000040946
Gene: ENSMUSG00000040351
AA Change: F794S
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
45 |
75 |
7.08e-1 |
SMART |
|
ANK
|
145 |
174 |
2.32e-5 |
SMART |
|
low complexity region
|
209 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
304 |
319 |
N/A |
INTRINSIC |
|
RING
|
334 |
382 |
9.73e-2 |
SMART |
|
IBR
|
403 |
479 |
8.72e-12 |
SMART |
|
IBR
|
502 |
566 |
2.59e-5 |
SMART |
|
RING
|
520 |
644 |
2.36e0 |
SMART |
|
low complexity region
|
764 |
773 |
N/A |
INTRINSIC |
|
low complexity region
|
808 |
822 |
N/A |
INTRINSIC |
|
UIM
|
846 |
865 |
3.62e-1 |
SMART |
|
low complexity region
|
905 |
917 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200335
AA Change: F800S
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000142687
Gene: ENSMUSG00000040351
AA Change: F800S
| Domain | Start | End | E-Value | Type |
|---|
|
ANK
|
45 |
75 |
4.5e-3 |
SMART |
|
ANK
|
145 |
174 |
1.4e-7 |
SMART |
|
low complexity region
|
209 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
304 |
319 |
N/A |
INTRINSIC |
|
RING
|
334 |
382 |
4.6e-4 |
SMART |
|
IBR
|
403 |
479 |
2.9e-14 |
SMART |
|
IBR
|
502 |
566 |
8.3e-8 |
SMART |
|
RING
|
520 |
644 |
1.1e-2 |
SMART |
|
low complexity region
|
768 |
779 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
C |
A |
3: 137,771,272 (GRCm39) |
Q154K |
probably benign |
Het |
| Aldh6a1 |
T |
G |
12: 84,488,662 (GRCm39) |
T75P |
probably damaging |
Het |
| Ank2 |
T |
A |
3: 126,871,230 (GRCm39) |
H98L |
probably damaging |
Het |
| Arhgap10 |
A |
T |
8: 78,091,717 (GRCm39) |
M434K |
possibly damaging |
Het |
| Cap1 |
A |
T |
4: 122,758,408 (GRCm39) |
F257L |
probably benign |
Het |
| Cdt1 |
T |
A |
8: 123,299,249 (GRCm39) |
H510Q |
probably damaging |
Het |
| Clca3b |
A |
C |
3: 144,533,733 (GRCm39) |
D547E |
possibly damaging |
Het |
| Col24a1 |
T |
C |
3: 145,004,627 (GRCm39) |
V35A |
probably benign |
Het |
| Cyp2j13 |
A |
T |
4: 95,945,112 (GRCm39) |
N305K |
probably damaging |
Het |
| D3Ertd751e |
T |
A |
3: 41,712,844 (GRCm39) |
|
probably null |
Het |
| D6Ertd527e |
G |
A |
6: 87,088,194 (GRCm39) |
G119D |
unknown |
Het |
| Ddc |
T |
C |
11: 11,774,870 (GRCm39) |
|
probably null |
Het |
| Dnah12 |
A |
T |
14: 26,601,681 (GRCm39) |
Y3713F |
probably damaging |
Het |
| Dock8 |
T |
A |
19: 25,077,041 (GRCm39) |
S504T |
probably benign |
Het |
| Farp2 |
T |
C |
1: 93,547,906 (GRCm39) |
F941L |
possibly damaging |
Het |
| Farp2 |
A |
G |
1: 93,547,952 (GRCm39) |
N956S |
possibly damaging |
Het |
| Fbxo3 |
T |
A |
2: 103,881,569 (GRCm39) |
H300Q |
probably damaging |
Het |
| Fcgrt |
T |
C |
7: 44,751,466 (GRCm39) |
T131A |
probably benign |
Het |
| Fndc7 |
G |
A |
3: 108,783,964 (GRCm39) |
A215V |
probably benign |
Het |
| Frem1 |
T |
C |
4: 82,904,798 (GRCm39) |
E890G |
probably benign |
Het |
| Fsip2 |
C |
A |
2: 82,817,269 (GRCm39) |
P4334H |
probably damaging |
Het |
| Gcdh |
C |
A |
8: 85,617,540 (GRCm39) |
V227L |
probably benign |
Het |
| Gm8267 |
A |
C |
14: 44,960,385 (GRCm39) |
M120R |
possibly damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Lasp1 |
T |
G |
11: 97,697,659 (GRCm39) |
H26Q |
probably damaging |
Het |
| Lrrcc1 |
T |
A |
3: 14,605,155 (GRCm39) |
I297N |
probably damaging |
Het |
| Map1b |
A |
T |
13: 99,567,101 (GRCm39) |
N1873K |
unknown |
Het |
| Map2 |
A |
G |
1: 66,454,646 (GRCm39) |
I1179V |
probably benign |
Het |
| Mtss1 |
A |
C |
15: 58,820,183 (GRCm39) |
|
probably benign |
Het |
| Mtus2 |
A |
G |
5: 148,214,438 (GRCm39) |
E28G |
probably damaging |
Het |
| Muc6 |
G |
A |
7: 141,217,320 (GRCm39) |
T2386I |
probably damaging |
Het |
| Myo3a |
G |
T |
2: 22,337,188 (GRCm39) |
V362L |
probably benign |
Het |
| N6amt1 |
G |
A |
16: 87,151,180 (GRCm39) |
V14M |
probably benign |
Het |
| Nav1 |
A |
T |
1: 135,382,349 (GRCm39) |
|
probably null |
Het |
| Nol6 |
A |
G |
4: 41,121,279 (GRCm39) |
S326P |
probably benign |
Het |
| Olr1 |
T |
A |
6: 129,465,074 (GRCm39) |
E100V |
probably damaging |
Het |
| Or52ab4 |
A |
G |
7: 102,987,428 (GRCm39) |
S56G |
possibly damaging |
Het |
| Or8k37 |
A |
T |
2: 86,469,495 (GRCm39) |
S186T |
probably benign |
Het |
| Otop3 |
T |
C |
11: 115,230,479 (GRCm39) |
Y119H |
probably damaging |
Het |
| Prb1b |
C |
T |
6: 132,289,527 (GRCm39) |
G99E |
unknown |
Het |
| Ryr2 |
A |
T |
13: 11,809,491 (GRCm39) |
M778K |
probably damaging |
Het |
| Serpina3n |
G |
T |
12: 104,375,184 (GRCm39) |
M85I |
probably benign |
Het |
| Serpine2 |
A |
G |
1: 79,772,748 (GRCm39) |
F390L |
probably damaging |
Het |
| Sf3b1 |
A |
G |
1: 55,040,205 (GRCm39) |
V591A |
probably damaging |
Het |
| Sf3b1 |
A |
G |
1: 55,053,640 (GRCm39) |
|
probably null |
Het |
| Slc26a5 |
C |
T |
5: 22,016,334 (GRCm39) |
V646I |
probably damaging |
Het |
| Slitrk3 |
T |
A |
3: 72,957,942 (GRCm39) |
K277* |
probably null |
Het |
| Sv2c |
A |
G |
13: 96,118,461 (GRCm39) |
S463P |
probably benign |
Het |
| Tbc1d4 |
G |
A |
14: 101,696,185 (GRCm39) |
T858M |
probably benign |
Het |
| Tbx18 |
T |
A |
9: 87,609,457 (GRCm39) |
I193F |
probably damaging |
Het |
| Tm6sf2 |
A |
C |
8: 70,530,982 (GRCm39) |
D245A |
probably damaging |
Het |
| Unc119 |
T |
C |
11: 78,239,380 (GRCm39) |
Y234H |
probably damaging |
Het |
| Wrn |
A |
T |
8: 33,842,157 (GRCm39) |
S46T |
probably benign |
Het |
| Zfp729a |
A |
T |
13: 67,768,468 (GRCm39) |
I587K |
probably benign |
Het |
| Zfp872 |
C |
A |
9: 22,111,912 (GRCm39) |
H464N |
probably damaging |
Het |
|
| Other mutations in Ankib1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00226:Ankib1
|
APN |
5 |
3,777,573 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL01329:Ankib1
|
APN |
5 |
3,784,194 (GRCm39) |
splice site |
probably benign |
|
|
IGL01372:Ankib1
|
APN |
5 |
3,822,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01593:Ankib1
|
APN |
5 |
3,782,590 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01613:Ankib1
|
APN |
5 |
3,763,146 (GRCm39) |
nonsense |
probably null |
|
|
IGL01728:Ankib1
|
APN |
5 |
3,751,992 (GRCm39) |
splice site |
probably benign |
|
|
IGL01782:Ankib1
|
APN |
5 |
3,777,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01878:Ankib1
|
APN |
5 |
3,784,152 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
IGL02730:Ankib1
|
APN |
5 |
3,752,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02742:Ankib1
|
APN |
5 |
3,743,479 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02873:Ankib1
|
APN |
5 |
3,822,619 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0033:Ankib1
|
UTSW |
5 |
3,819,588 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R0242:Ankib1
|
UTSW |
5 |
3,750,344 (GRCm39) |
splice site |
probably benign |
|
|
R0564:Ankib1
|
UTSW |
5 |
3,779,655 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0632:Ankib1
|
UTSW |
5 |
3,822,529 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0732:Ankib1
|
UTSW |
5 |
3,763,163 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1678:Ankib1
|
UTSW |
5 |
3,756,301 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1816:Ankib1
|
UTSW |
5 |
3,784,028 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2165:Ankib1
|
UTSW |
5 |
3,763,210 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R3434:Ankib1
|
UTSW |
5 |
3,742,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3749:Ankib1
|
UTSW |
5 |
3,784,097 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4745:Ankib1
|
UTSW |
5 |
3,782,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4827:Ankib1
|
UTSW |
5 |
3,751,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4983:Ankib1
|
UTSW |
5 |
3,819,652 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4989:Ankib1
|
UTSW |
5 |
3,763,217 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5022:Ankib1
|
UTSW |
5 |
3,784,011 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5057:Ankib1
|
UTSW |
5 |
3,784,011 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R5510:Ankib1
|
UTSW |
5 |
3,779,693 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5606:Ankib1
|
UTSW |
5 |
3,751,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5910:Ankib1
|
UTSW |
5 |
3,743,217 (GRCm39) |
missense |
probably benign |
|
|
R5929:Ankib1
|
UTSW |
5 |
3,819,633 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5986:Ankib1
|
UTSW |
5 |
3,797,071 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6281:Ankib1
|
UTSW |
5 |
3,751,965 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R6336:Ankib1
|
UTSW |
5 |
3,750,377 (GRCm39) |
nonsense |
probably null |
|
|
R6377:Ankib1
|
UTSW |
5 |
3,743,855 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R7264:Ankib1
|
UTSW |
5 |
3,805,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7380:Ankib1
|
UTSW |
5 |
3,772,576 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7402:Ankib1
|
UTSW |
5 |
3,819,586 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7491:Ankib1
|
UTSW |
5 |
3,751,911 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7525:Ankib1
|
UTSW |
5 |
3,805,734 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7562:Ankib1
|
UTSW |
5 |
3,797,021 (GRCm39) |
missense |
probably null |
1.00 |
|
R8116:Ankib1
|
UTSW |
5 |
3,752,995 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8347:Ankib1
|
UTSW |
5 |
3,797,065 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8712:Ankib1
|
UTSW |
5 |
3,822,643 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8750:Ankib1
|
UTSW |
5 |
3,752,890 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8854:Ankib1
|
UTSW |
5 |
3,777,489 (GRCm39) |
missense |
probably null |
0.97 |
|
R9032:Ankib1
|
UTSW |
5 |
3,819,641 (GRCm39) |
missense |
probably benign |
0.16 |
|
R9180:Ankib1
|
UTSW |
5 |
3,756,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9325:Ankib1
|
UTSW |
5 |
3,822,523 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R9474:Ankib1
|
UTSW |
5 |
3,805,617 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9504:Ankib1
|
UTSW |
5 |
3,763,235 (GRCm39) |
missense |
probably benign |
|
|
R9564:Ankib1
|
UTSW |
5 |
3,805,733 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
Z1088:Ankib1
|
UTSW |
5 |
3,763,137 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Ankib1
|
UTSW |
5 |
3,763,136 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ankib1
|
UTSW |
5 |
3,742,763 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCTTTAGTCATTAACTTCCTGG -3'
(R):5'- GAAGCACCTGTGACCACTAG -3'
Sequencing Primer
(F):5'- AACTTCCTGGTTTTCTTTATCCTTAG -3'
(R):5'- GCACCTGTGACCACTAGAAATTTTG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation